Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
314 0.882 0.200 1 216086749 stop gained G/A snv 1.6E-05 2.8E-05 0.700 1.000 2 2008 2016
Leber Congenital Amaurosis
CUI: C0339527
Disease: Leber Congenital Amaurosis
109 0.882 0.200 1 216086749 stop gained G/A snv 1.6E-05 2.8E-05 0.700 1.000 1 2019 2019
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
541 0.882 0.200 1 216086749 stop gained G/A snv 1.6E-05 2.8E-05 0.700 1.000 1 2019 2019